Variant report

Variant	rs16928973
Chromosome Location	chr11:36514245-36514246
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:36499926..36500772-chr11:36513833..36514822,2	MCF-7	breast:
2	chr11:36511850..36514350-chr11:36531047..36533063,2	MCF-7	breast:
3	chr11:36376592..36377186-chr11:36514048..36514915,2	MCF-7	breast:
4	chr11:36490330..36491199-chr11:36514094..36514601,2	K562	blood:
5	chr11:36514029..36514979-chr11:36562385..36563157,2	MCF-7	breast:
6	chr11:36313210..36314088-chr11:36513978..36514494,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000166349	Chromatin interaction
ENSG00000175104	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1159233	0.87[EUR][1000 genomes]
rs1399599	0.85[AMR][1000 genomes]
rs4151013	0.85[AMR][1000 genomes]
rs4151024	0.85[AMR][1000 genomes]
rs4151044	0.85[AMR][1000 genomes]
rs5030490	0.81[CHB][hapmap];0.86[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5030493	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5030495	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5030497	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5030499	0.90[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs5030504	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5030507	1.00[EUR][1000 genomes]
rs554949	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv467791	chr11:36108497-36999385	Flanking Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv554003	chr11:36108497-36999385	ZNF genes & repeats Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:36490000-36530400	Weak transcription	Esophagus	oesophagus
2	chr11:36500800-36522400	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr11:36502200-36523400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr11:36504400-36524000	Weak transcription	Stomach Mucosa	stomach
5	chr11:36504800-36517400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
6	chr11:36504800-36517600	Strong transcription	Fetal Muscle Leg	muscle
7	chr11:36504800-36521200	Strong transcription	Fetal Intestine Large	intestine
8	chr11:36504800-36521600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr11:36504800-36521800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr11:36504800-36522800	Strong transcription	Liver	Liver
11	chr11:36504800-36523000	Strong transcription	Fetal Muscle Trunk	muscle
12	chr11:36505200-36516400	Strong transcription	Cortex derived primary cultured neurospheres	brain
13	chr11:36505200-36521600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr11:36505400-36520800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr11:36505400-36521600	Strong transcription	Duodenum Mucosa	Duodenum
16	chr11:36505400-36523200	Strong transcription	Primary neutrophils fromperipheralblood	blood
17	chr11:36505600-36514600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr11:36505600-36517200	Strong transcription	Rectal Mucosa Donor 29	rectum
19	chr11:36505800-36517200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr11:36505800-36520800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr11:36506000-36520400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr11:36506000-36520800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr11:36506400-36517600	Strong transcription	HSMMtube	muscle
24	chr11:36506600-36523200	Strong transcription	Placenta	Placenta
25	chr11:36506800-36515000	Strong transcription	Rectal Mucosa Donor 31	rectum
26	chr11:36507400-36524800	Weak transcription	Psoas Muscle	Psoas
27	chr11:36507600-36521800	Strong transcription	HUES64 Cell Line	embryonic stem cell
28	chr11:36508800-36530400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr11:36509200-36514800	Strong transcription	HUES48 Cell Line	embryonic stem cell
30	chr11:36509200-36520400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr11:36509600-36516200	Strong transcription	Thymus	Thymus
32	chr11:36509800-36514400	Strong transcription	NHLF	lung
33	chr11:36509800-36521600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr11:36510000-36520200	Strong transcription	Left Ventricle	heart
35	chr11:36510000-36523200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr11:36510000-36525600	Strong transcription	Fetal Thymus	thymus
37	chr11:36510200-36515000	Strong transcription	Muscle Satellite Cultured Cells	--
38	chr11:36510200-36515000	Strong transcription	HSMM	muscle
39	chr11:36510200-36516000	Strong transcription	Primary T cells from cord blood	blood
40	chr11:36510200-36520200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr11:36510200-36521600	Strong transcription	Monocytes-CD14+_RO01746	blood
42	chr11:36510200-36523400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr11:36510400-36520400	Strong transcription	Primary hematopoietic stem cells	blood
44	chr11:36510400-36520600	Strong transcription	NH-A	brain
45	chr11:36510400-36521800	Strong transcription	Primary monocytes fromperipheralblood	blood
46	chr11:36510400-36523000	Strong transcription	Primary T cells fromperipheralblood	blood
47	chr11:36510400-36523000	Strong transcription	Adipose Nuclei	Adipose
48	chr11:36510400-36523800	Strong transcription	Primary B cells from cord blood	blood
49	chr11:36510600-36514400	Strong transcription	GM12878-XiMat	blood
50	chr11:36510600-36514400	Strong transcription	HepG2	liver

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